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Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
1 OMIM reference -
1 associated gene
14 connected diseases
No signs/symptoms info
Disease Type of connection
Duchenne muscular dystrophy
Spinocerebellar ataxia type 7
Alternating hemiplegia of childhood
Benign paroxysmal torticollis of infancy
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Spinocerebellar ataxia type 6
B-cell chronic lymphocytic leukemia
Dentatorubral pallidoluysian atrophy
Distal 22q11.2 microdeletion syndrome
Gray platelet syndrome
Synpolydactyly type 2
Camurati-Engelmann disease
Cystic fibrosis
- Urban-Rifkin-Davis syndrome

Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical thoracic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
LTBP4 Q8N2S1604710
No signs/symptoms info available.